Enlarged Vestibular Aqueduct Syndrome

Common Name(s)

Enlarged Vestibular Aqueduct Syndrome

DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by {8:Campbell et al., 2001} and {20:Pryor et al., 2005}). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients ({24:Valvassori, 1983}; {14:Jackler and de la Cruz, 1989}; {15:Levenson et al., 1989}; {4:Arcand et al., 1991}; {7:Belenky et al., 1993}; {17:Okumura et al., 1995}).

Advocacy and Support Organizations

Condition Specific Organizations

VEDA's mission is to serve people with vestibular (inner ear balance) disorders by providing access to information, offering a support network, and elevating awareness of the challenges associated with these conditions.

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Advocacy and Support Organizations

Condition Specific Organizations

VEDA's mission is to serve people with vestibular (inner ear balance) disorders by providing access to information, offering a support network, and elevating awareness of the challenges associated with these conditions.

General Support Organizations

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for Enlarged Vestibular Aqueduct Syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Enlarged Vestibular Aqueduct Syndrome" returned 5 free, full-text research articles on human participants.
First 3 results:

Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa Islands are the southwestern-most islands of the Japanese archipelago. And ancestral differences have been reported between people from ...

Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness. In many patients with an EVA/PS phenotype, mutation screening ...

Although enlarged vestibular aqueduct syndrome (EVAS) has been reported to be one of the most common anomalies associated with sensorineural hearing loss, the mechanism of such loss is unclear, and there are no established criteria for diagnosis. We report 4 patients with sensorineural ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Enlarged Vestibular Aqueduct Syndrome" returned 1 free, full-text review articles on human participants.
First 3 results:

The Enlarged Vestibular Aqueduct Syndrome is characterized by a widening of the vestibular aqueduct, associated with sensorineural hearing loss, or sometimes with mixed hearing loss, which may be congenital or acquired during childhood. The sensorineural hearing loss may be classified ...

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Enlarged Vestibular Aqueduct Syndrome" (open studies are recruiting volunteers) and 1 "Enlarged Vestibular Aqueduct Syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Enlarged Vestibular Aqueduct Syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.